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Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen

Disorder	Genes	Test Method	Lab Info	Product code
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP11B1,	Sequence analysis of the entire coding region		CODE: 26715	Add to Cart Add to Compare List
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP17A1,	Sequence analysis of the entire coding region		CODE: 26716	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Deletion/duplication analysis	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Deletion/duplication analysis		CODE: 26718	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Sequence analysis of the entire coding region		CODE: 26717	Add to Cart Add to Compare List
2q37 Microdeletion Syndrome - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	2q37 Microdeletion Syndrome		Sequence analysis of the entire coding region		CODE: 26719	Add to Cart Add to Compare List
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia	HSD3B2,	Sequence analysis of the entire coding region		CODE: 26720	Add to Cart Add to Compare List
Aarskog Syndrome - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	Aarskog Syndrome	FGD1,	Sequence analysis of the entire coding region		CODE: 26721	Add to Cart Add to Compare List
ABCA12-Related Autosomal Recessive Congenital Ichthyosis - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	ABCA12-Related Autosomal Recessive Congenital Ichthyosis	ABCA12,	Sequence analysis of the entire coding region		CODE: 26722	Add to Cart Add to Compare List
ABCA4-Related Retinitis Pigmentosa - Deletion/duplication analysis	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	ABCA4-Related Retinitis Pigmentosa		Deletion/duplication analysis		CODE: 26724	Add to Cart Add to Compare List
ABCA4-Related Retinitis Pigmentosa - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	ABCA4-Related Retinitis Pigmentosa		Sequence analysis of the entire coding region		CODE: 26723	Add to Cart Add to Compare List
ABCA4-Related Stargardt Disease 1 - Deletion/duplication analysis	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	ABCA4-Related Stargardt Disease 1	ABCA4,	Deletion/duplication analysis		CODE: 26726	Add to Cart Add to Compare List
ABCA4-Related Stargardt Disease 1 - Sequence analysis of the entire coding region	Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen	ABCA4-Related Stargardt Disease 1	ABCA4,	Sequence analysis of the entire coding region		CODE: 26725	Add to Cart Add to Compare List

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